- gex-2 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable RNA 7-methylguanosine cap binding activity. Involved in several processes, including embryonic body morphogenesis; positive regulation of clathrin-dependent endocytosis; and positive regulation of egg-laying behavior. Located in cell junction. Part of SCAR complex. Human ortholog(s) of this gene implicated in several diseases, including Schaaf-Yang syndrome; autism spectrum disorder; and epilepsy (multiple). Is an ortholog of human CYFIP1 (cytoplasmic FMR1 interacting protein 1) and CYFIP2 (cytoplasmic FMR1 interacting protein 2).
- Caps2 [Search on AGR]
Homo sapiens Calcyphosine-2 is a calcium-binding protein with 2 EF-hand motifs (Wang et al., 2002 [PubMed 11846421]).[supplied by OMIM, Mar 2008]
- Catsperg [Search on AGR]
Homo sapiens CATSPERG is a subunit of the CATSPER (see CATSPER1; MIM 606389) sperm calcium channel, which is required for sperm hyperactivated motility and male fertility (Wang et al., 2009 [PubMed 19516020]).[supplied by OMIM, Jul 2010]
- Utp20 [Search on AGR]
Homo sapiens UTP20 is a component of the U3 small nucleolar RNA (snoRNA) (SNORD3A; MIM 180710) protein complex (U3 snoRNP) and is involved in 18S rRNA processing (Wang et al., 2007 [PubMed 17498821]).[supplied by OMIM, Jun 2009]
- Ebf4 [Search on AGR]
Homo sapiens EBF4 belongs to the conserved Olf/EBF family of helix-loop-helix transcription factors, members of which play important roles in neural development and B-cell maturation (Wang et al., 2002 [PubMed 12139918]).[supplied by OMIM, Mar 2008]
- Pebp4 [Search on AGR]
Homo sapiens The phosphatidylethanolamine (PE)-binding proteins, including PEBP4, are an evolutionarily conserved family of proteins with pivotal biologic functions, such as lipid binding and inhibition of serine proteases (Wang et al., 2004 [PubMed 15302887]).[supplied by OMIM, Dec 2008]
- Taf1d [Search on AGR]
Homo sapiens TAF1D is a member of the SL1 complex, which includes TBP (MIM 600075) and TAF1A (MIM 604903), TAF1B (MIM 604904), and TAF1C (MIM 604905), and plays a role in RNA polymerase I transcription (Wang et al., 2004 [PubMed 15520167]; Gorski et al., 2007 [PubMed 17318177]).[supplied by OMIM, Jun 2009]
- Kcnma1 [Search on AGR]
Homo sapiens This gene encodes the alpha subunit of calcium-activated BK channel. The encoded protein is involved in several physiological processes including smooth muscle contraction, neurotransmitter release and neuronal excitability. Mutations in this gene are associated with a spectrum of neurological disorders including Paroxysmal Nonkinesigenic Dyskinesia 3, Idiopathic Generalized Epilepsy 16 and Liang-Wang syndrome. [provided by RefSeq, Aug 2022]
- Sgf29 [Search on AGR]
Homo sapiens CCDC101 is a subunit of 2 histone acetyltransferase complexes: the ADA2A (TADA2A; MIM 602276)-containing (ATAC) complex and the SPT3 (SUPT3H; MIM 602947)-TAF9 (MIM 600822)-GCN5 (KAT2A; MIM 602301)/PCAF (KAT2B; MIM 602303) acetylase (STAGA) complex. Both of these complexes contain either GCN5 or PCAF, which are paralogous acetyltransferases (Wang et al., 2008 [PubMed 18838386]).[supplied by OMIM, Apr 2010]
- Magel2 [Search on AGR]
Rattus norvegicus Predicted to enable ubiquitin-protein transferase activity. Predicted to be involved in several processes, including Arp2/3 complex-mediated actin nucleation; protein K63-linked ubiquitination; and retrograde transport, endosome to Golgi. Predicted to act upstream of or within positive regulation of actin nucleation. Predicted to be located in endosome. Predicted to be part of retromer complex. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in Schaaf-Yang syndrome. Orthologous to human MAGEL2 (MAGE family member L2); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil; bisphenol A.